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产品信息
PA5-147081
产品规格
种属反应
Human
已发表种属
Human
宿主/亚型
Rabbit
/ IgG
分类
Polyclonal
类型
Antibody
抗原
Recombinant protein corresponding to Human EXT1
偶联物
形式
Liquid
浓度
0.05 mg/mL
纯化类型
Antigen affinity chromatography
保存液
PBS, pH 7.2, with 40% glycerol
内含物
0.02% sodium azide
保存条件
Store at 4°C short term. For long term storage, store at -20°C, avoiding freeze/thaw cycles.
运输条件
Ambient (domestic); Wet ice (international)
RRID
0
产品详细信息
Immunogen sequence: EDVGFDIGQA MLAKASISTE NFRPNFDVSI PLFSKDHPRT GGERGFLKFN TIPPLRKYML VFKGKRYLTG IGSDTRNALY HVHNGEDVVL LTTCKHGKDW QKHKDSRCDR DNTEYEKYDY REMLHNATFC L
Highest antigen sequence identity to the following orthologs: Mouse - 99%, Rat - 99%.
靶标信息
Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the formation of exostoses (EXT), which are cartilage-capped bony protuberances mainly located on long bones. Two proteins associated with EXT, EXT1 and EXT2, form homo/heteromeric complexes in vivo, which leads to the accumulation of both proteins in the Golgi apparatus. EXT1 and EXT2 are endoplasmic reticulum-localized type II transmembrane glycoproteins that possess, or are tightly associated with, glycosyltransferase activities involved in the polymerization of the glycosaminoglycan, heparan sulfate (HS). EXT2 is a protein that harbors the D-glucuronyl (GlcA) and N-acetyl-D-glucosaminyl (GlcNAc) transferase activities required for biosynthesis of HS. EXT1 rescues defective HS biosynthesis and elevates low GlcA and GlcNAc transferase levels in mutated cells.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
生物信息学
蛋白别名: exostoses (multiple) 1; exostosin 1; Exostosin glycosyltransferase 1; Exostosin-1; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Heparan sulfate co-polymerase subunit EXT1; Langer-Giedion syndrome chromosome region; Multiple exostoses protein 1; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; putative tumor suppressor protein EXT1
基因别名: EXT; EXT1; LGCR; LGS; TRPS2; TTV
UniProt ID: (Human) Q16394
Entrez Gene ID: (Human) 2131
acetylglucosaminyltransferase activity
glucuronosyltransferase activity
transferase activity, transferring glycosyl groups
heparan sulfate N-acetylglucosaminyltransferase activity
protein homodimerization activity
metal ion binding
protein heterodimerization activity
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity
glycosyltransferase
skeletal system development
ossification
glycosaminoglycan biosynthetic process
protein glycosylation
signal transduction
gastrulation
axon guidance
endoderm development
mesoderm development
heparan sulfate proteoglycan biosynthetic process
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process
olfactory bulb development
cellular polysaccharide biosynthetic process
embryonic skeletal joint development
